Canonical Allele Identifier: CA762209076

Gene: COL3A1

Linked Data

• dbSNP Id: rs1364866359
• MyVariant Identifiers: chr2:g.189873538_189873540del (hg19) ; chr2:g.189008812_189008814del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189008815_189008817del , CM000664.2:g.189008815_189008817del	GRCh38
NC_000002.11:g.189873541_189873543del , CM000664.1:g.189873541_189873543del	GRCh37
NC_000002.10:g.189581786_189581788del	NCBI36
NG_007404.1:g.39443_39445del , LRG_3:g.39443_39445del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3427-109_3427-107del	ENSP00000415346.2:n.3427-109_3427-107del
ENST00000304636.9:c.3526-109_3526-107del MANE Select	ENSP00000304408.4:n.3526-109_3526-107del
ENST00000304636.7:c.3526-109_3526-107del	ENSP00000304408.3:n.3526-109_3526-107del
ENST00000317840.9:c.2617-109_2617-107del	ENSP00000315243.6:n.2617-109_2617-107del
ENST00000487010.1:n.514_516del
NM_000090.3:c.3526-109_3526-107del , LRG_3t1:c.3526-109_3526-107del	NP_000081.1:n.3526-109_3526-107del
NM_000090.4:c.3526-109_3526-107del MANE Select	NP_000081.2:n.3526-109_3526-107del